Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited. More detailed information about the symptoms, causes, and treatments of Kaufman oculocerebrofacial syndrome is available below.
See full list of 26 symptoms of Kaufman oculocerebrofacial syndrome
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Kaufman oculocerebrofacial syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Kaufman oculocerebrofacial syndrome, or a subtype of Kaufman oculocerebrofacial syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Kaufman oculocerebrofacial syndrome as a "rare disease".
Source - Orphanet
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